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- NCIT_C126876 IAO_0000115 "An autosomal recessive condition caused by mutation (s) in the SHOX gene, encoding short stature homeobox protein. The condition is characterized by shortening of the bones of the middle segments of the limbs." @default.
- NCIT_C126876 NCIT_NHC0 "C126876" @default.
- NCIT_C126876 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C126876 NCIT_P108 "Langer Mesomelic Dysplasia" @default.
- NCIT_C126876 NCIT_P207 "C0432230" @default.
- NCIT_C126876 NCIT_P322 "Cellosaurus" @default.
- NCIT_C126876 NCIT_P322 "NICHD" @default.
- NCIT_C126876 NCIT_P325 "SHOX deficiency due to homozygous mutation(s) in the SHOX gene. This condition is characterized by severe hypoplasia of the radius/ulna and tibia/fibula resulting in extreme short stature." @default.
- NCIT_C126876 NCIT_R176 NCIT_C16612 @default.
- NCIT_C126876 NCIT_R176 NCIT_C20917 @default.
- NCIT_C126876 NCIT_R176 NCIT_C75403 @default.
- NCIT_C126876 normalizedInformationContent "100" @default.
- NCIT_C126876 referenceCount "1" @default.
- NCIT_C126876 hasExactSynonym "Langer Mesomelic Dysplasia" @default.
- NCIT_C126876 hasExactSynonym "Langer Syndrome" @default.
- NCIT_C126876 hasExactSynonym "Langer Type Mesomelic Dysplasia" @default.
- NCIT_C126876 inSubset NCIT_C118467 @default.
- NCIT_C126876 inSubset NCIT_C165258 @default.
- NCIT_C126876 inSubset NCIT_C192842 @default.
- NCIT_C126876 inSubset NCIT_C90259 @default.
- NCIT_C126876 type Class @default.
- NCIT_C126876 isDefinedBy ncit.owl @default.
- NCIT_C126876 label "Langer Mesomelic Dysplasia" @default.
- NCIT_C126876 subClassOf B336ce424314b8658fe61e94d088efaf2 @default.
- NCIT_C126876 subClassOf B59d67f56dcb6984a63bc75e7d5e13283 @default.
- NCIT_C126876 subClassOf NCIT_C121156 @default.
- NCIT_C126876 subClassOf NCIT_C126876 @default.
- NCIT_C126876 subClassOf NCIT_C2991 @default.
- NCIT_C126876 subClassOf NCIT_C4873 @default.
- NCIT_C126876 subClassOf NCIT_C53529 @default.
- NCIT_C126876 subClassOf NCIT_C53543 @default.
- NCIT_C126876 subClassOf NCIT_C53547 @default.
- NCIT_C126876 subClassOf NCIT_C7057 @default.
- NCIT_C126876 subClassOf NCIT_C84978 @default.